The NHGRI Office of the Clinical Director manages Clinical Support Services for Genetics and Genomics in a variety of ways. 1. The Office provides extensive administrative support for medical personnel in their performance of clinical research into rare genetic diseases. This includes credentialing of health care professionals, support of their state licenses, provision of parking spaces for acute care providers, scheduling of patients and their tests, arranging contracts for clinical testing, and providing reimbursement for travel, outside medical testing, and especially genetic testing. 2. The Office also provides academic support and infrastructure for clinical investigators, including the setting of policies for the Institute, assisting in patient recruitment, handling patient, physician, and Congressional inquiries by phone, FAX, or e-mail, providing advice regarding clinical protocol writing, tracking protocols through the Institutional Review Board (IRB) approval system, managing monitoring of the Institute's clinical protocols, establishing and supporting a Data Safety and Monitoring Board and arranging its meetings twice a year, and creating and maintaining a Statistical Consultation Service for the entire Institute. The Clinical Director also supervises the administrative personnel as well as research nurses and nurse practitioners for the Institute, and schedules ward coverage. The Clinical Director provides financial and administrative supervision of the Bioethics Core and the IRB, and the Scientific Review Committee (SCR) operates out of the OCD. The SRC reviews clinical protocols for scientific merit prior to IRB submission. This year the NHGRI IRB became part of the NIH-wide Medicine I IRB and transfer of the data system from PTMS to IRIS was completed. 3. The NHGRI Clinical Director supports the Clinical Center by contributing to the hospital's policy making, participating in biweekly meetings of the Medical Executive Committee, and representing the Clinical Center to distinguished visitors. Each Monday, members of the OCD conduct paper rounds of NHGRI patients seen in the past week and scheduled for the coming week. 4. The NHGRI OCD manages the Institute's recent initiatives regarding patient safety, protocol monitoring, event reporting, and data management. This past year, the OCD renewed contracts for clinical database data entry support, protocol monitoring, and handling of IND correspondence with the FDA. The OCD also sets policies and manages the assignment of Staff Clinicians to the status of either Assistant, Associate, or Senior Staff Clinician. The OCD verified adverse event training for the entire NHGRI clinical staff, and the Acting Clinical Director made quarterly reports to the NHGRI Director. 5. The Office of the Clinical Director advances clinical and translational research in the NHGRI by fostering new initiatives such as the NIH Undiagnosed Diseases Program (in collaboration with the NIH Clinical Center). This initiative, a model for Precision Medicine, provides answers to patients with mysterious conditions that have eluded diagnosis, and advances medical knowledge. The Intramural UDP is part of the Undiagnosed Diseases Network (UDN), a national consortium of 12 clinical sites, a coordinating center, sequencing center, biorepository, two model organism cores, and a metabolomics core. Over the past 10 years, the NIH UDP reviewed over 4000 medical records, evaluated over 1300 patients, and diagnosing over 300 rare and novel disorders. Two Section members sit on the UDN Working Group. This year, Section members delivered over 15 national and international talks on the UDP, fostered expansion of the Undiagnosed Diseases Network International (UDNI) for sharing phenotypic and sequence data, and organized the 7th international UDNI meeting in Delhi. Dr. Cynthia Tifft was Co-Chair of the UDN Steering Committee, and Dr. David Adams now serves in that position. 6. The OCD provides administrative support to the NIH UDP and also to the Unit on Glycosphingolipid Storage Disorders, headed by Cynthia Tifft, MD, PhD. The scientific accomplishments of those entities are presented in a separate Annual Report (HG200402-01), with a publications list.